Proper diagnosis of rare disorder can greatly improve quality of life

Canadian doctors are trying to shed light on a mysterious illness in the hopes of prompting earlier diagnosis and treatment for those affected by the rare nervous-system disorder.

Postural Tachycardia Syndrome, or POTS, has likely existed for centuries but was only well-defined less than 25 years ago. There is no known cause or cure for POTS, which is an unusual heart rate increase experienced when someone is in an upright position. It's caused by a malfunction of the autonomic nervous system that regulates heartbeat and blood pressure as we move.

Dr. Carlos Morilla, a cardiologist with Hamilton Health Sciences, said the disorder can “markedly” impair quality of life, especially because it is not widely understood in the medical world.

“A lot of these people lose their jobs because nobody is paying attention to their symptoms,” Morilla said.

It is estimated that 50,000 people in Canada suffer from POTS. Patients are predominantly female, although it can affect both genders and all ages. The cause is not yet known.

Living with POTS

As a child, Brittany Crichton began experiencing fatigue, chronic pain and fainting spells after little exertion. She also noticed that her heart rate increased rapidly.

The reason, physicians say, is that part of the nervous system that regulates blood flow doesn’t function properly when POTS patients stand upright. This in turn, leads to a rapid increase in heart rate.

Crichton says as a young adult, she still struggles.

“If you look at me, I appear to be normal, even on my most painful days,” she said.

Symptoms

Dr. Juan Guzman, who runs a POTS clinic at Hamilton Health Sciences, said the effects of the disorder can be debilitating.

“(Patients) can have symptoms from their gastrointestinal tract, incontinence, chronic diarrhea,” Guzman said in an interview with CTV News. “They can have also chronic vomiting.”

“When you have a young adult who suddenly starts to develop symptoms of dizziness, light headedness and they stop doing their regular things, it is a sign it may be POTS," he said.

Complicating matters is that the symptoms can vary widely between patients.

POTS patient Justin Raczynski can only stay upright or walk for a short amount of time. Even waiting for an elevator can make the 18-year-old dizzy and at risk of fainting.

“I can’t keep upright and walk for so long, if I do, I’ll pass out,” said Raczynski, who was originally misdiagnosed with epilepsy and an eating disorder.

At a clinic at the Hamilton General Hospital, Raczynski received what physicians call the definitive test for POTS. Using a tilt table, doctors were able to test Raczynski’s heartbeat while he was laying down and then shift him into an upright position, which documented the dramatic rise in heart rate.

According to Raczynski, his heart rate jumped so dramatically, his heart briefly stopped.

As a result, Raczynski is now on a special diet and taking medication. “I am much better than I was before,” he said.

No one knows what causes this unusual condition, though some of those affected say they suffered a viral infection prior to the onset of their symptoms.

Doctors who see these cases are trying to get the word out that POTS is a treatable condition if the right diagnosis is made.

"It is a relatively new condition so it is difficult to diagnose," Guzman said.

"If you have someone in your family complaining about palpitation when they stand that are associated with light headedness and dizziness. If they say ‘My heart races a lot, I can't go to work or to school’ you can think about POTS," said Morilla.

“This is not a life-threatening condition, this is a chronic disease,” Guzman said. “The prognosis is good, in general.”

Crichton says she is doing her best to work through the fatigue and symptoms, and has since become an advocate for people living with POTS.

Crichton is organizing a fundraising walk in May for the ILC Foundation, which offers support to young people living with the disorder.

Diagnostic criteria for POTS:

Sustained heart rate increase of 30 beats per minute or more within 10 minutes of standing or head up tilt (40 beats per minute at age 12-19).

Standing heart rate is often 120 beats per minute or more within 10 minutes of standing or head up tilt.

Orthostatic tachycardia (rapid heartbeat on standing up) may be accompanied by symptoms of low blood flow to the brain – light headedness and autonomic over activity that are relieved by lying down.

(Source: patient.co.uk)

With a report from CTV News Medical Specialist Avis Favaro and producer Elizabeth St. Philip